Gene Symbol |
SNAPIN
|
Entrez Gene |
23557
|
Alt Symbol |
BLOC1S7, BLOS7, SNAPAP
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
SNAP-associated protein
|
Other Description |
BLOC-1 subunit 7|SNAP-25-binding protein|SNARE associated protein snapin|SNARE-associated protein Snapin|biogenesis of lysosomal organelles complex-1, subunit 7|biogenesis of lysosome-related organelles complex 1 subunit 7|synaptosomal-associated protein 25-binding protein
|
Swissprots |
Q5SXU8 O95295 D3DV56
|
Accessions |
CAI18797 EAW53288 EAW53289 O95295 AA173972 AF086837 AAD11417 AI018675 AK024555 BAB14927 BC000761 AAH00761 BC004494 AAH04494 BE278772 BI117540 BM051828 BT006753 AAP35399 CD671119 NM_012437 NP_036569 NR_052019 NR_052020
|
Function |
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking and synaptic vesicle recycling. May modulate a step between vesicle priming, fusion and calcium-dependent neurotransmitter release through its ability to potentiate the interaction of synaptotagmin with the SNAREs and the plasma- membrane-associated protein SNAP25. Its phosphorylation state influences exocytotic protein interactions and may regulate synaptic vesicle exocytosis. May also have a role in the mechanisms of SNARE-mediated membrane fusion in non-neuronal cells. {ECO:000
|
Subcellular Location |
Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:18167355, ECO:0000269|PubMed:19168546, ECO:0000269|PubMed:21102408}. Golgi apparatus membrane {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle {ECO:0000250}. Note=May be cytoplasmic and peripheral membrane bound or anchored to the vesicular membrane through an N- terminal signal anchor (By similarity). Colocalizes with NANOS1 and PUM2 in the perinuclear region of germ cells. {ECO:0000250}.
|
Tissue Specificity |
Expressed in male germ cells of adult testis (at protein level). {ECO:0000269|PubMed:19168546}.
|